{"Name":"DDX41-related hematologic malignancy predisposition syndrome","DiseaseID__c":"GARD:0017899","id":17899,"encodedName":"ddx41-related-hematologic-malignancy-predisposition-syndrome","IsDeleted":false,"Disease_Name_Full__c":"DDX41-related hematologic malignancy predisposition syndrome","Xref_IDs__c":"C4225174; MEDGEN:895780; MONDO:0014809; OMIM:616871; ORPHA:488647","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0014809","Disease_Description__c":"Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.","GARD_Name__c":"DDX41-related hematologic malignancy predisposition syndrome","GARD_Synonym__c":"ddx41 hereditary neoplastic syndrome; hereditary neoplastic syndrome caused by mutation in ddx41; mplpf; myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"DDX41-related hematologic malignancy predisposition syndrome is a rare inherited condition. It makes people more likely to develop certain types of blood cancers when they are adults. These cancers mainly affect a specific type of blood cell called myeloid cells. The cancers that develop include myelodysplastic syndrome and acute myeloid leukemia. Sometimes people with this syndrome may also develop other immune-related problems. These include sarcoidosis, lupus, asthma, eczema, or juvenile arthritis. They may develop these conditions before or in the absence of developing blood cancer.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:488647","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014809","ORPHANET_ID__c":"ORPHA:488647","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de predisposición al cáncer hematológico asociado a ddx41","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de predisposición al cáncer hematológico asociado a ddx41","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"DDX41-related hematologic malignancy predisposition syndrome is a rare inherited condition. It makes people more likely to develop certain types of blood cancers when they are adults. These cancers mainly affect a specific type of blood cell called myeloid cells. The cancers that develop include myelodysplastic syndrome and acute myeloid leukemia. Sometimes people with this syndrome may also develop other immune-related problems. These include sarcoidosis, lupus, asthma, eczema, or juvenile arthritis. They may develop these conditions before or in the absence of developing blood cancer.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"ddx41 hereditary neoplastic syndrome; hereditary neoplastic syndrome caused by mutation in ddx41; mplpf; myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to","Name":"DDX41-related hematologic malignancy predisposition syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Aplastic Anemia and MDS International Foundation","Website__c":"https://www.aamds.org"},{"Account_Name__c":"Blood Cancer United","Website__c":"https://bloodcancerunited.org/"},{"Account_Name__c":"The MDS Foundation","Website__c":"https://www.mds-foundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:488647"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:488647"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK574843","Source__c":"Gene Review","Xref__c":"NBK574843"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225174","Source__c":"C4225174","Xref__c":"C4225174"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=895780","Source__c":"C4225174","Xref__c":"MEDGEN:895780"},{"URL__c":"https://www.omim.org/entry/616871","Source__c":"C4225174; MONDO:0014809; ORPHA:488647","Xref__c":"OMIM:616871"},{"URL__c":"https://www.orpha.net/en/disease/detail/488647","Source__c":"C4225174; MONDO:0014809","Xref__c":"ORPHA:488647"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014809","Source__c":"GARD:0017899","Xref__c":"MONDO:0014809"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DDX41","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616871","Feature__r":{"HPO_Description__c":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000964","HPO_Synonym__c":"Eczema","HPO_Name__c":"Eczematoid dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616871","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005505","HPO_Name__c":"Refractory anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616871","Feature__r":{"HPO_Description__c":"Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031688","HPO_Name__c":"Erythroid dysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616871","Feature__r":{"HPO_Description__c":"An abnormal decreased number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001882","HPO_Synonym__c":"Decreased blood leukocyte number; Leukopenia; Low white blood cell count","HPO_Name__c":"Decreased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616871","Feature__r":{"HPO_Description__c":"Abnormal increase of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012311","HPO_Synonym__c":"High blood monocyte number; Monocytosis","HPO_Name__c":"Increased total monocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616871","Feature__r":{"HPO_Description__c":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002725","HPO_Synonym__c":"SLE","HPO_Name__c":"Systemic lupus erythematosus","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616871","Feature__r":{"HPO_Description__c":"A form of leukemia characterized by overproduction of an early myeloid cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004808","HPO_Synonym__c":"Acute myeloblastic leukemia; Acute myelocytic leukemia; Acute myelogenous leukemia; AML","HPO_Name__c":"Acute myeloid leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616871","Feature__r":{"HPO_Description__c":"Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002099","HPO_Synonym__c":"Asthma; Bronchial asthma","HPO_Name__c":"Asthma","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616871","Feature__r":{"HPO_Description__c":"A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002665","HPO_Synonym__c":"Cancer of lymphatic system","HPO_Name__c":"Lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616871","Feature__r":{"HPO_Description__c":"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005528","HPO_Synonym__c":"Bone marrow failure; Bone marrow hypoplasia; Hypoplastic bone marrow; Myeloid hypoplasia","HPO_Name__c":"Bone marrow hypocellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616871","Feature__r":{"HPO_Description__c":"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002863","HPO_Synonym__c":"Myelodysplastic syndrome","HPO_Name__c":"Myelodysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics"],"Cause":["Genetics"],"Disease Category":["Genetics"]},"synonyms":["ddx41 hereditary neoplastic syndrome"," hereditary neoplastic syndrome caused by mutation in ddx41"," mplpf"," myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to"]}